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Bortezomib
2
Endocytosis
2
Exome Sequencing
2
Female
2
Fibroblasts
2
HeLa Cells
2
Humans
2
Infant
2
Lactosylceramides
Lysosomes
2
Male
2
Mucopolysaccharidoses
2
Phenotype
2
Proteasome Inhibitors
2
Protein Conformation
2
Pyrrolidines
2
Siberia
2
Vesicular Transport Proteins
2
Antigens
1
Antigens, CD
1
CD
1
Carbohydrate Metabolism
1
Carbohydrate Metabolism, Inborn Errors
1
Cells
1
Cells, Cultured
1
Cultured
1
Inborn Errors
1
Missense
1
Mutation
1
Mutation, Missense
1
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